Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Lucia Perone"'
Autor:
Julie Martone, Michela Lisi, Francesco Castagnetti, Alessandro Rosa, Valerio Di Carlo, Enrique Blanco, Adriano Setti, Davide Mariani, Alessio Colantoni, Tiziana Santini, Lucia Perone, Luciano Di Croce, Irene Bozzoni
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 8, Pp n/a-n/a (2020)
Abstract Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools. Here, we show a DMD study case
Externí odkaz:
https://doaj.org/article/7c39711dad2b4a2b8f5aa3dfa9d3a1bb
Autor:
Irene Bozzoni, Francesco Castagnetti, Enrique Blanco, Luciano Di Croce, Valerio Di Carlo, Michela Lisi, Alessio Colantoni, Lucia Perone, Julie Martone, Adriano Setti, Alessandro Rosa, Davide Mariani, Tiziana Santini
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 8, Pp n/a-n/a (2020)
EMBO Molecular Medicine
EMBO Molecular Medicine
Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools. Here, we show a DMD study case where th
Autor:
Michela Ciano, Lucia Perone, Stefano Bonatti, Raffaele Iorio, Silvia Parisi, Roman S. Polishchuk, Elena V. Polishchuk, Maria Gallo, Simona Allocca, Anna Musto, Giusy Ranucci
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-2 (2020)
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosom
Autor:
Gaetano Calì, Gerard W. Dougherty, Lucio Nitsch, Lucia Perone, Brunella Franco, Daniela Iaconis, Roberta Tammaro, Antonella Ragnini-Wilson, Mariaevelina Alfieri
Publikováno v:
Tissuecell. 64
Oral-Facial-Digital type I (OFD1) is a rare inherited form of renal cystic disease associated with ciliary dysfunction. This disorder is due to mutations in the OFD1 gene that encodes a protein localized to centrosomes and basal bodies in different c
Autor:
Laura Perrone, Annalaura Torella, Emanuele Miraglia del Giudice, Mariacarolina Salerno, Filippo De Luca, Pierluigi Marzuillo, Francesca Del Vecchio Blanco, Vincenzo Nigro, Maria Francesca Messina, Alessia Sallemi, Lucia Perone, Raffaella Di Mase, Anna Grandone, M. Caruso
Publikováno v:
Hormone Research in Paediatrics. 86:330-336
Aims: We aimed at evaluating a standard multiplex ligation-dependent probe amplification (MLPA) probe set for the detection of aneuploidy to diagnose Turner syndrome (TS). We first fixed an MLPA ratio cutoff able to detect all cases of TS in a pilot
Autor:
Simona Allocca, Anna Musto, Giusy Ranucci, Michela Ciano, Stefano Bonatti, Silvia Parisi, Raffaele Iorio, Roman S. Polishchuk, Lucia Perone, Maria Gallo, Elena V. Polishchuk
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports
Scientific Reports
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f91041dec19cba98314d5eb6354c9998
http://hdl.handle.net/11588/717595
http://hdl.handle.net/11588/717595
Autor:
Francesca Scarano, Luisa Forino, Marianna Maioli, Cinzia Lombardi, Maria Ciavarella, Roberto Ciccone, Lucia Perone, Fortunato Lonardo, Giuseppina Cantalupo, Lucia Masella, Matteo Della Monica
Publikováno v:
American Journal of Medical Genetics Part A. 155:769-777
Partial trisomy 16 is rare and most of the reported cases are secondary to chromosome rearrangements resulting in concurrent monosomies or trisomies of a second chromosome. Only a few patients survive the neonatal period and the duplication of the lo
Autor:
Maria Pia Sperandeo, Generoso Andria, Gianfranco Sebastio, Daniela Melis, Lucia Perone, Annamaria Staiano
Publikováno v:
Clinical Dysmorphology. 15:13-18
The '13q-' syndrome shows widely variable manifestations. Investigation of the involvement of different tissues has never been reported in patients with 13q- syndrome previously. We describe a patient with mosaicism for del(13q) and clinical features
Autor:
Lucia Perone, Vito Guzzetta, Emilia Iaccarino, Generoso Andria, Maria Vittoria Andreucci, Maria Grazia Marzano, Daniele De Brasi, Pasqua Di Micco, Massimiliano Rossi, Giovanna Roberta Vega
Publikováno v:
American Journal of Medical Genetics. 110:353-358
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combinat
Autor:
Vincenzo Nigro, Lucia Perone, Marco Savarese, Giulio Piluso, Laura Perrone, Giuseppina Di Fruscio, Emanuele Miraglia del Giudice, G Fogu, Francesca Del Vecchio Blanco, Giuseppina De Luca, Anna Grandone
Publikováno v:
American Journal of Medical Genetics Part A; Vol 161
Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6990d4a032b33cf49f4690f65e53e1
http://hdl.handle.net/11591/320734
http://hdl.handle.net/11591/320734